Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0033036 (APC)
 10,214 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Nonsense or frameshift mutations, which result in a truncated gene product, are prevalent in a variety of disease-related genes, including APC (implicated in colorectal cancer), BRCA1 and BRCA2 (breast and ovarian cancer), PKD1 (polycystic kidney disease), NF1 and NF2 (neurofibromatosis), and DMD (Duchenne muscular dystrophy). Such chain-truncating mutations can be detected using the protein truncation test (PTT). This test is based on cell-free transcription and translation of either PCR-amplified portions of the target gene or RT-PCR amplified target mRNA, followed by analysis of the product(s) for shortened polypeptide fragments. However, conventional PTT is not easily adapted to high-throughput applications because it involves SDS-PAGE followed by autoradiography or western blotting. It is also subject to human error, as it relies on visual inspection to detect the mobility of shifted bands. To overcome these limitations, we have developed a high-throughput solid-phase protein truncation test (HTS-PTT). HTS-PTT uses a combination of misaminoacylated tRNAs, which incorporate affinity tags for surface capture of the cell-free expressed protein fragments, and specially designed PCR primers, which introduce N- and C-terminal markers for measuring the relative level of shortened polypeptides produced by the chain-truncation mutation. After cell-free translation of the protein fragments, capture and detection are accomplished in a single well using a standard 96-well microtiter plate enzyme-linked immunosorbent assay (ELISA) format and chemiluminescence readout. We demonstrate the use of the technique to detect chain-truncation mutations in the APC gene using DNA or RNA from cancer cell lines as well as DNA of individuals diagnosed with familial adenomatous polyposis (FAP). HTS-PTT can also provide a high-throughput method for noninvasive colorectal cancer screening when used in conjunction with methods of enriching and amplifying low-abundance mutant DNA.
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PMID:A high-throughput nonisotopic protein truncation test. 1252 52

This in vitro study evaluated the influence of curing tip distance on the Knoop Hardness Number (KHN) of a resin composite when using three different light curing units: (1) a halogen light (XL 1500 curing unit-3M), (2) a "softstart-polymerization" (Elipar Trilight curing in an exponential mode-ESPE) and (3) a PAC (Apolo 95E curing unit-DMD). The resin composite, Filtek Z250 (3M), was cured by these curing units at three light-tip distances from the resin composite: 0 mm, 6 mm and 12 mm. The resin composite specimens were flattened to their middle portion and submitted to 18 KHN measurements perspecimen. The results showed that for the Elipar Trilight unit, the hardness of the resin composite decreased as the light tip distance increased. The XL 1500 unit presented a significant decrease in hardness as the depth of cure of the resin composite increased. Apolo 95E caused a decrease in the resin composite hardness values when the depth of cure and light tip distance increased.
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PMID:Influence of curing tip distance on resin composite Knoop hardness number, using three different light curing units. 1276 Jul 5

This study investigated the influence of different light sources associated with a transdental photoactivation technique on the marginal adaptation and hardness of composite restorations. Cavities (3 mm wide x 3 mm long x 1.5 mm in deep) were prepared on flattened bovine dentin and filled with Z250 composite (3M ESPE). Nine groups (n=10) were defined according to the curing technique (direct; transdental--photo-activation through 1 mm of enamel and 2 mm of dentin; mixed--transdental + direct) and light source (QTH XL2500, 3M ESPE; PAC Apollo 95E, DMD; LED Ultrablue Is, DMC) combination. Marginal adaptation was evaluated using a dye staining method, and the percentage of stained margins was recorded. Knoop Hardness readings were made across the transversal section of the fillings. Data were submitted to two-way ANOVA and Tukey's test (p< or =0.05). For margin analysis, although none of the curing conditions provided perfect adaptation, the mixed technique showed lower gap formation. No significant differences were detected between the transdental and other techniques, and no significant differences were detected among the light sources. For hardness, the direct technique showed slightly greater hardness than the mixed technique. Also, the mixed technique yielded greater hardness than the transdental technique. Among the light sources, the LED showed greater hardness than the PAC; whereas, no significant differences between the QTH and other sources were detected. The mixed technique might improve the marginal adaptation of restorations, while not being detrimental to composite hardness.
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PMID:Transdental photo-activation technique: hardness and marginal adaptation of composite restorations using different light sources. 1866